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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

Fig. 1

Identification of three homozygous mutations in the MPDZ gene using targeted NGS. Pedigrees of the three families with individuals affected by congenital hydrocephalus represented in grey, blue arrows indicate the affected foetuses which underwent NGS screening. An asterisk depicts individuals who underwent Sanger sequencing for segregation analysis. Figures under the foetuses identify the foetuses included in the study (a) Sanger sequencing electropherograms obtained in probands, affected siblings and parents (b)

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